It's been a while! But things are starting to happen for Kennedy so I wanted to make sure to document the journey. 2019 has the potential to be an amazing year for her and we are so hopeful!
Around 2015-ish our Neurologist left Vanderbilt and we began seeing an awesome Nurse Practioner there. She was amazing and asked us if we had ever had any genetic testing done which we had not. No one had ever mentioned it to us before that. The APRN told us that she would like our next visit to be with another Neurologist who specialized in genetics so that, if nothing else, we could talk about our options. And that led us to Dr. Brault at Vanderbilt Children's.
In 2016, we began genetic testing to see if we could determine the cause for Kennedy's seizures and delays. The first panel of tests were for things that were linked to seizures only and all came back normal. Around that time Kennedy began having grand mal seizures which was really scary. We were told it's probably due to puberty approaching and hormone changes. By the end of 2016, Dr. Brault decided to do a genetics panel for things linked to Microcephaly. Everyone that has seen Kennedy has always mentioned she has a small head, but she's tiny so nothing really seemed abnormal to me. I even went so far as to get my records from my pediatrician which showed that I was always behind in growth. About a month later I got a call from the lab who requested that I also needed to submit a sample which made me think that they must have found something. A few months later I got a call from Vanderbilt that Kennedy had shown a mutation in a gene and that she needed to do the Keto diet. There wasn't much explanation about anything and our family was under the impression that the tests just showed that Keto could help with Kennedy's seizures due to this mutation. I guess I dropped the ball at this point because I didn't really look into the genetic condition-- I was told there's not really anything to find and the doctor didn't appear to be too concerned. We tried Keto and Kennedy would rather starve than to change her eating habits. Her seizures had subsided with medication changes so I didn't push the diet. Things were going fine!
So in November 2018 we were at a routine follow up with Dr. Brault. We see her every 6 months so this was nothing out of the ordinary. This visit was different though. The Neurology Department had moved to another location so the appointment didn't seem rushed and we really got to talk about our concerns with Dr. Brault. Don't get me wrong, she's always been very attentive to our concerns, but if you've ever visited the Neuro department at Vanderbilt Children's, you know that there are a million doctors and like 3 patient rooms so it's always an in-and-out process.
Anyway....so like always I mentioned to Dr. Brault that Kennedy is always tired-- sleeping 10-12 hours a night and napping 2-3 hours if she can on the weekends. In the past, Dr. Brault and other doctors had said that it's all due to puberty. Teens sleep a lot and since Kennedy doesn't sleep in, she front loads that sleep and just goes to bed at 7 PM to still get all that sleep...... But this time, Dr. Brault said we should do a sleep study, but she was almost certain it was due to her genetic condition.-- Glut 1 Deficiency Syndrome (more about that in another post). So then I expressed my other concern, that Kennedy is like another person when she's hungry. I'm not talking irritable, I'm talking SPLIT PERSONALITY! She's mean, she's emotional, she's hard to handle...... and guess what-- that also is more than likely from the Glut 1 DS. Basically, her body cannot transport glucose to the brain to use for energy. Not only is she tired all the time she also doesn't get the energy she needs from food because....well....it can't.
Dr. Brault recommended we look for Clinical Trails for Triheptanoin. Some of the trials would not require us to be on a Keto diet, but may help with improving Kennedy's overall functioning.
On the way home from Vanderbilt I drove while mom read off information on Glut 1 DS and Kennedy was the poster child for it! It ALL made sense! Kennedy "checked off every box". Cue the mom guilt in that I hadn't researched it when we first got the genetics test back, but honestly, the way it was presented to us just made us think they were telling us the Keto diet would help with the seizures. There was no mention of any of our other concerns being linked to this condition. I keep reminding myself that I could only make decisions based on the information I had so I'm trying not to be too hard on myself. In the past, we'd had the Epilepsy and Cerebral Palsy diagnoses but we never really "fit" into those. Kennedy doesn't have a lot of seizures-- and a lot of epilepsy families I met were dealing with many seizures a day. And then of course Cerebral Palsy-- she can walk so we didn't really fit in with most kids there either.
Now it seems we have found our place and other people who are on our same journey! In a couple of weeks we will be flying to Dallas to start the trial for the Triheptanoin. After getting home from Vanderbilt that day I reached out to two studies and heard back from both within hours. One of studies was on hold, the other study was very interested in Kennedy's participation. After talking to the doctor leading the study, I knew that we had to give this a try. It's an all-natural oil that has minimal side effects (tummy troubles are possible) but the potential to offer many improvements for Kennedy. I will give more details on all of this soon, but I wanted to catch everyone up on this exciting news!
Stay tuned!
